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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:familial episodic pain syndrome 3
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Accession:DOID:0111731 term browser browse the term
Definition:A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)
Synonyms:exact_synonym: FEPS3
 primary_id: OMIM:615552
 xref: NCI:C125390;   ORDO:391392
For additional species annotation, visit the Alliance of Genome Resources.



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familial episodic pain syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by OMIM:615552
ClinVar Annotator: match by term: Episodic pain syndrome, familial, 3
OMIM
ClinVar
PMID:24207120 PMID:24776970 PMID:25741868 PMID:28166811 PMID:28298626 More... NCBI chr 8:119,495,550...119,567,044
Ensembl chr 8:119,496,769...119,567,044
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            familial episodic pain syndrome 3
              familial episodic pain syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                familial episodic pain syndrome 3 1
paths to the root